Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs149183129
rs149183129
1 19 8388621 intron variant TTTTT/-;TTTTTT;TTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs28830565
rs28830565
1 19 8380722 intron variant C/T snv 0.11 0.700 1.000 1 2019 2019